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rs121908553

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908553(A;A)
Make rs121908553(A;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position63941957
GeneSCN4A
is asnp
is mentioned by
dbSNPrs121908553
ebirs121908553
HLIrs121908553
Exacrs121908553
Varsomers121908553
Maprs121908553
PheGenIrs121908553
hapmaprs121908553
1000 genomesrs121908553
hgdprs121908553
ensemblrs121908553
gopubmedrs121908553
geneviewrs121908553
scholarrs121908553
googlers121908553
pharmgkbrs121908553
gwascentralrs121908553
openSNPrs121908553
23andMers121908553
23andMe allrs121908553
SNP Nexus

SNPshotrs121908553
SNPdbers121908553
MSV3drs121908553
GWAS Ctlgrs121908553
Max Magnitude0
OMIM603967
Desc
Variant0018
Relatedalso
ClinVar
Risk rs121908553(A;A)
Alt rs121908553(A;A)
Reference rs121908553(T;T)
Significance Pathogenic
Disease Congenital myasthenic syndrome Congenital myasthenic syndrome
Variation info
Gene SCN4A
CLNDBN Congenital myasthenic syndrome, acetazolamide-responsive Congenital myasthenic syndrome
Reversed 1
HGVS NC_000017.10:g.62019317A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006277.5, RCV000235023.1,